Blood Test For ALS
Amyotrophic lateral sclerosis (ALS) is a fatal neuromuscular disease which afflicts approximately 30,000 individuals in North America, with 5,000 new cases per year. In ALS, also known as Lou Gehrig's disease, the muscles that control movement, speech, swallowing, and respiration weaken and atrophy due to degeneration of motor nerve cells that supply them from the spinal cord and brain. Half of the affected individuals die within 3 years, and survival over 5 years is less than 20%. ALS is currently incurable, although marginal disease slowing is provided by the glutamate release inhibitor riluzole. About 20% of familial ALS cases are associated with mutations in the gene encoding superoxide dismutase 1 (SOD1) (4), a classically cytosolic free radical defense enzyme. Evidence is accumulating that all types of ALS – familial and sporadic – are associated with SOD1 misfolding, oxidation, and aggregation. Neural deposits of aggregated misfolded SOD1 have been detected in familial ALS, and also in sporadic ALS, and biochemical evidence of SOD1 misfolding has also been detected in sporadic ALS. Positive feedback loops have been identified between protein misfolding and excitotoxicity, suggesting that these two pathogenic processes are not mutually exclusive in ALS.
On November 17, 2011, the Company announced that it is developing a blood test to be used as a diagnostic tool for amyotrophic lateral sclerosis (ALS). Initial ground breaking scientific study results from Amorfix Chief Scientific Officer Dr. Neil Cashman and colleagues at UBC demonstrate that misfolded SOD1 is present in the blood of ALS patients. The Company plans to capitalize on this discovery and existing scientific expertise to develop a simple blood test that measures misfolded SOD1 in blood.
At the present time, clinicians must rely on a combination of clinical findings and imaging to confirm the diagnosis, as there is no diagnostic test or biomarker at their disposal. The Company believes that the availability of a reliable blood test would represent an important leap in the management of this devastating disease, allowing clinicians to conduct better clinical studies, and eventually begin treatment earlier.